• Definition: defect in neutrophil chemotaxis and microtubule polymerization dysfunction → defective phagosome-lysosome fusion
• Etiology: autosomal recessive; defective lysosomal trafficking regulator (LYST) gene
• Clinical features
  • Recurrent pyogenic infections
  • Partial albinism
  • Progressive degeneration of neurons and peripheral neuropathy
  • Hemophagocytic lymphohistiocytosis (can occur in the accelerated phase and is potentially fatal)
• Diagnosis
  • Peripheral smear shows giant cytoplasmic granules in granulocytes and platelets
  • Mild coagulation abnormalities
  • Pancytopenia (especially neutropenia)

Mnemonic

Chédiak-Higashi sounds like a mountain, where traffic are defected.